A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727513



Internal ID21753834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103230212..103230212hg38UCSC Ensembl
chr1:103695768..103695768hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg381812
hg191812
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247895, nssv17244227
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5727513
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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